Canonical Allele Identifier: PA094128
Gene: FKRP HGNC NCBI

Linked Data

ClinVar Variation Id: 4233
ClinVar RCV Id: RCV000004455 RCV000004454 RCV000494504 RCV000805125 RCV000844942 RCV003488324
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Amino-acid Alleles

HGVS (amino-acid) Matching Registered Transcripts
NP_001034974.1:p.Tyr307Asn
CA116724
NM_001039885.3:c.919T>A